Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
UBE2E2_chr3_23198327_23596794	23571280	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG01099.hp1 others(21): Show HG00558.hp1 HG00639.hp1 HG01099.hp1 HG01261.hp2 HG01346.hp1 HG02080.hp1 HG02145.hp2 HG02165.hp2 HG02976.hp2 HG03471.hp2 HG03654.hp1 HG03688.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp2 NA18988.hp2 NA19000.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp2 NA19057.hp2 NA19090.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0001t0032	a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0063 others(21): Show a0001c0001t0001g0001 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0076 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0002g0216 a0001c0001t0002g0219 a0001c0001t0002g0221 a0001c0001t0004g0091 a0001c0001t0004g0297 a0001c0001t0004g0305 a0001c0001t0008g0200 a0001c0001t0018g0098 a0001c0001t0032g0125	24	336	0.0714	23	c.509 others(42): Show c.509-18449_509-18427dupTTTTTTTTTTTTTTTTTTTTTTT	UBE2E2	ENSG00000182247.11	transcript	ENST00000396703.6	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
UBE2H_chr7_129825732_129957960	129836879	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA19056.hp2 NA19089.hp1 NA18946.hp1 NA19056.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0108 a0001c0001t0001g0212 a0001c0001t0017g0221 a0001c0001t0001g0108 a0001c0001t0001g0212 a0001c0001t0017g0221	3	290	0.0103	23	c.428 others(40): Show c.428-1841_428-1819dupTTTTTTTTTTTTTTTTTTTTTTT	UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	6/6			chr7	TogoVar
UBE2H_chr7_129825732_129957960	129854060	G G	GGTTTTTT others(16): Show GGTTTTTTTTTTTTTTTTTATTTT	intron_variant intron_variant	MODIFIER	NA19067.hp1 homoSapiens_chm13v2.hp1 NA19067.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0044 a0001c0002t0005 a0001c0002t0044	a0001c0002t0005g0007 a0001c0002t0044g0283 a0001c0002t0005g0007 a0001c0002t0044g0283	2	290	0.0069	23	c.298 others(40): Show c.298+3450_298+3451insAAAATAAAAAAAAAAAAAAAAAC	UBE2H	ENSG00000186591.13	transcript	ENST00000355621.8	protein_coding	5/6			chr7	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19084.hp1 HG02809.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0059 a0001c0001t0001g0016 a0001c0001t0001g0059	2	336	0.0060	23	c.63+ others(40): Show c.63+16161_63+16162insATATATATATATATATTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(16): Show ATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03453.hp1 HG03453.hp2 HG02572.hp1 HG03453.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0003g0165 a0001c0001t0005g0169 a0001c0001t0008g0170 a0001c0001t0003g0165 a0001c0001t0005g0169 a0001c0001t0008g0170	3	336	0.0089	23	c.63+ others(40): Show c.63+16161_63+16162insATATATATATATATTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0168 a0001c0001t0005g0168	1	336	0.0030	23	c.63+ others(40): Show c.63+16161_63+16162insATATATATATATTTTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATAT others(16): Show ATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 NA19065.hp2 HG01515.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0291 a0001c0001t0002g0292	2	336	0.0060	23	c.63+ others(40): Show c.63+16161_63+16162insATATATATTTTTTTTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2K_chr4_39693136_39787792	39714550	A A	ATATATTT others(16): Show ATATATTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0317 a0001c0001t0002g0317	1	336	0.0030	23	c.63+ others(40): Show c.63+16161_63+16162insATATTTTTTTTTTTTTTTTTTTT	UBE2K	ENSG00000078140.14	transcript	ENST00000261427.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
UBE2L5_chr13_30417493_30434758	30421965	T T	TGGGGCGG others(16): Show TGGGGCGGGAAGGAGGGAGAGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	430	0.0023	23	c.-14 others(34): Show c.-1491_-1490insGGGGCGGGAAGGAGGGAGAGGTG	UBE2L5	ENSG00000236444.5	transcript	ENST00000635918.2	protein_coding		527		chr13	TogoVar
UBE2N_chr12_93400684_93446947	93406275	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp1 NA18942.hp1 NA18947.hp1 others(2): Show HG00609.hp1 NA18942.hp1 NA18947.hp1 NA18948.hp2 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0009 a0001c0001t0018g0206 a0001c0001t0018g0009 a0001c0001t0018g0206	5	372	0.0134	23	c.37 others(34): Show c.3741_*3763dupTTTTTTTTTTTTTTTTTTTTTTT	UBE2N	ENSG00000177889.10	transcript	ENST00000318066.7	protein_coding	4/4	3763		chr12	TogoVar
UBE2O_chr17_76384456_76458152	76388640	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	364	0.0028	23	c.23 others(34): Show c.2302_*2303insAAAAAAAAAAAAAAAAAAAAAAA	UBE2O	ENSG00000175931.13	transcript	ENST00000319380.12	protein_coding		815		chr17	TogoVar
UBE2Q2_chr15_75838447_75906078	75868647	T T	TTAAATTA others(16): Show TTAAATTAGATTTAATTTACATAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	356	0.0028	23	c.388 others(38): Show c.388-303_388-302insAAATTAGATTTAATTTACATAAT	UBE2Q2	ENSG00000140367.12	transcript	ENST00000267938.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
UBE2R2_chr9_33812160_33925399	33877849	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0087 a0001c0001t0003g0087	1	366	0.0027	23	c.178 others(40): Show c.178-9032_178-9031insTCTCTCTCTCTCTCTCTCTCTCT	UBE2R2	ENSG00000107341.5	transcript	ENST00000263228.4	protein_coding	1/4			chr9	TogoVar
UBE2T_chr1_202326657_202346936	202332907	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA19043.hp1 NA18950.hp2 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0151 a0001c0002t0001g0087 a0001c0002t0001g0151	2	370	0.0054	23	c.468 others(37): Show c.468+80_468+102dupTTTTTTTTTTTTTTTTTTTTTTT	UBE2T	ENSG00000077152.12	transcript	ENST00000646651.1	protein_coding	6/6			chr1	TogoVar
UBE2U_chr1_64198623_64272368	64239090	G G	GAAGAAGA others(16): Show GAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0198	1	330	0.0030	23	c.596 others(40): Show c.596-2561_596-2560insAGAAGAAGAAGAAGAAGAAGAAA	UBE2U	ENSG00000177414.14	transcript	ENST00000371077.10	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE2V1_chr20_50076124_50118150	50079375	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0042 a0001c0002t0007g0042	1	398	0.0025	23	c.33 others(34): Show c.3392_*3393insAAAAAAAAAAAAAAAAAAAAAAA	UBE2V1	ENSG00000244687.13	transcript	ENST00000371674.8	protein_coding		1748		chr20	TogoVar
UBE2W_chr8_73781219_73883862	73805454	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAACAAAAAA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	266	0.0038	23	c.442 others(38): Show c.442+196_442+197insTTTTTTGTTTTTTTTTTTTTTTT	UBE2W	ENSG00000104343.21	transcript	ENST00000602593.6	protein_coding	5/5			chr8	TogoVar
UBE3A_chr15_25328728_25444024	25332812	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0274 a0001c0001t0047g0274	1	298	0.0034	23	c.63 others(34): Show c.6324_*6325insAAAAAAAAAAAAAAAAAAAAAAA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding		915		chr15	TogoVar
UBE3A_chr15_25328728_25444024	25398767	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0207 a0001c0001t0007g0207	1	298	0.0034	23	c.62+ others(38): Show c.62+6693_62+6694insTATATATATATATATATATATAT	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	4/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CCTATATA others(16): Show CCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0063 a0001c0001t0019g0063	1	298	0.0034	23	c.-16 others(42): Show c.-165+8461_-165+8462insTATATATATATATATATATATAG	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE3A_chr15_25328728_25444024	25430027	C C	CTATATAT others(16): Show CTATATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	298	0.0034	23	c.-16 others(42): Show c.-165+8461_-165+8462insTAATATATATATATATATATATA	UBE3A	ENSG00000114062.22	transcript	ENST00000648336.2	protein_coding	1/12			chr15	TogoVar
UBE4B_chr1_10027958_10186239	10028343	A A	ACCCCTCC others(16): Show ACCCCTCCCCCTCCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0015 a0001c0006t0008g0015	1	222	0.0045	23	c.-53 others(34): Show c.-5328_-5327insCCCCTCCCCCTCCCCCTCCCCTC	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding		4614		chr1	TogoVar
UBE4B_chr1_10027958_10186239	10148331	C C	CTTAGCAA others(16): Show CTTAGCAAGAAGTCAAGAAGGCTG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0023 a0001c0017t0001g0023	1	222	0.0045	23	c.259 others(40): Show c.2592-852_2592-830dupTTAGCAAGAAGTCAAGAAGGCTG	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding	19/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
UBE4B_chr1_10027958_10186239	10183142	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 NA19030.hp1 HG01257.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0020 a0001c0003 a0001c0020	a0001c0003t0002 a0001c0020t0002 a0001c0003t0002 a0001c0020t0002	a0001c0003t0002g0003 a0001c0020t0002g0065 a0001c0003t0002g0003 a0001c0020t0002g0065	2	222	0.0090	23	c.31 others(34): Show c.3186_*3187insTTTTTTTTTTTTTTTTTTTTTTT	UBE4B	ENSG00000130939.20	transcript	ENST00000343090.11	protein_coding		1904		chr1	TogoVar
UBN2_chr7_139226237_139313236	139304706	G G	GTGTGTGT others(16): Show GTGTGTGTGTGTGTGTGTGTGTGT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0129 a0001c0002t0060g0129	1	262	0.0038	23	c.68 others(34): Show c.6870_*6871insTGTGTGTGTGTGTGTGTGTGTGT	UBN2	ENSG00000157741.15	transcript	ENST00000473989.8	protein_coding	18/18	6871		chr7	TogoVar
UBR2_chr6_42559029_42698505	42619453	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0244 a0001c0001t0018g0244	1	342	0.0029	23	c.128 others(42): Show c.1281+1947_1281+1948insATATATATATATATATATTTTTT	UBR2	ENSG00000024048.11	transcript	ENST00000372901.2	protein_coding	11/46		INFO_REALIGN_3_PRIME	chr6	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 NA18962.hp2 HG03225.hp1 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0153 a0001c0002t0002g0180 a0001c0002t0002g0153 a0001c0002t0002g0180	2	324	0.0062	23	c.545 others(40): Show c.545+3076_545+3077insATATATATATATATATATATATT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	169831127	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0156 a0001c0002t0002g0156	1	324	0.0031	23	c.545 others(40): Show c.545+3076_545+3077insATATATATATATATATATTTTTT	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR3_chr2_169822454_170089131	170001912	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02135.hp1 NA18955.hp2 others(1): Show HG01516.hp1 HG02135.hp1 NA18955.hp2 NA19072.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0004 a0003c0012 a0001c0003 a0002c0004 a0003c0012	a0001c0003t0003 a0002c0004t0004 a0003c0012t0004 a0001c0003t0003 a0002c0004t0004 a0003c0012t0004	a0001c0003t0003g0320 a0002c0004t0004g0291 a0002c0004t0004g0292 others(1): Show a0001c0003t0003g0320 a0002c0004t0004g0291 a0002c0004t0004g0292 a0003c0012t0004g0301	4	324	0.0124	23	c.402 others(40): Show c.4029+506_4029+528dupAAAAAAAAAAAAAAAAAAAAAAA	UBR3	ENSG00000144357.18	transcript	ENST00000272793.11	protein_coding	27/38		INFO_REALIGN_3_PRIME	chr2	TogoVar
UBR4_chr1_19069510_19215266	19187083	T T	TATATATA others(16): Show TATATATATATACATATATATATC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0020 a0020	a0020c0041 a0020c0041	a0020c0041t0001 a0020c0041t0001	a0020c0041t0001g0189 a0020c0041t0001g0189	1	326	0.0031	23	c.163 others(38): Show c.1632+80_1632+81insGATATATATATGTATATATATAT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	13/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	326	0.0031	23	c.139 others(42): Show c.1394+1875_1394+1876insATATATATATTTTTTTTTTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19190312	A A	AAAAAAAT others(16): Show AAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	326	0.0031	23	c.139 others(42): Show c.1394+1875_1394+1876insATATATATATATATATATTTTTT	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	11/105			chr1	TogoVar
UBTD2_chr5_172204646_172288764	172251314	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAGAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02717.hp2 HG02630.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0001 a0001c0001t0009g0001	2	374	0.0054	23	c.71- others(40): Show c.71-16957_71-16956insTTTTTTTTCTTTTTTTTTTTTTT	UBTD2	ENSG00000168246.6	transcript	ENST00000393792.3	protein_coding	1/2			chr5	TogoVar
UBXN2B_chr8_58406361_58456501	58446779	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	414	0.0024	23	c.834 others(38): Show c.834-596_834-574dupTTTTTTTTTTTTTTTTTTTTTTT	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
UCHL3_chr13_75544791_75611020	75571974	C C	CCTGTCTG others(16): Show CCTGTCTGTCTTGTCTTGTCTTGT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	326	0.0031	23	c.474 others(40): Show c.474+2468_474+2469insTGTCTGTCTTGTCTTGTCTTGTC	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UFSP2_chr4_185394537_185430964	185418068	A A	ACACACAC others(16): Show ACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0050 a0001c0001t0003g0050	1	300	0.0033	23	c.333 others(38): Show c.333+372_333+373insGTGTGTGTGTGTGTGTGTGTGTG	UFSP2	ENSG00000109775.11	transcript	ENST00000264689.11	protein_coding	4/11			chr4	TogoVar
UGCG_chr9_111891814_111940369	111921802	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01516.hp2 HG02056.hp1 others(1): Show HG01258.hp2 HG01516.hp2 HG02056.hp1 NA18965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0039 a0001c0002t0002 a0001c0002t0039	a0001c0002t0002g0053 a0001c0002t0002g0114 a0001c0002t0002g0116 others(1): Show a0001c0002t0002g0053 a0001c0002t0002g0114 a0001c0002t0002g0116 a0001c0002t0039g0074	4	424	0.0094	23	c.241 others(40): Show c.241-1043_241-1021dupTTTTTTTTTTTTTTTTTTTTTTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT2_chr13_95796580_96058401	95807716	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0262 a0003c0003t0001g0262	1	332	0.0030	23	c.452 others(42): Show c.4529-5905_4529-5904insAAAAAAAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	38/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	95924393	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19070.hp2 NA18992.hp2 NA19070.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0260 a0003c0003t0001g0271 a0003c0003t0001g0260 a0003c0003t0001g0271	2	332	0.0060	23	c.229 others(42): Show c.2295+1264_2295+1286dupAAAAAAAAAAAAAAAAAAAAAAA	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding	20/38			chr13	TogoVar
UGGT2_chr13_95796580_96058401	96054210	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01069.hp1 others(9): Show HG00323.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG02809.hp1 NA18949.hp1 NA18957.hp1 NA18960.hp1 NA18984.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0019	a0001c0001 a0001c0004 a0003c0003 others(3): Show a0001c0001 a0001c0004 a0003c0003 a0004c0006 a0004c0010 a0019c0031	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 others(3): Show a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0004c0006t0001 a0004c0010t0001 a0019c0031t0001	a0001c0001t0001g0058 a0001c0004t0001g0275 a0003c0003t0001g0168 others(9): Show a0001c0001t0001g0058 a0001c0004t0001g0275 a0003c0003t0001g0168 a0003c0003t0001g0243 a0003c0003t0001g0246 a0003c0003t0001g0252 a0003c0003t0001g0278 a0003c0003t0001g0282 a0004c0006t0001g0279 a0004c0010t0001g0155 a0004c0010t0001g0157 a0019c0031t0001g0137	12	332	0.0361	23	c.-89 others(32): Show c.-899_-898insTTTTTTTTTTTTTTTTTTTTTTT	UGGT2	ENSG00000102595.22	transcript	ENST00000376747.8	protein_coding		810		chr13	TogoVar
UGT1A10_chr2_233631448_233778300	233661680	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 NA19060.hp1 HG02809.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0099 a0001c0001t0002g0071 a0001c0001t0001g0099 a0001c0001t0002g0071	2	302	0.0066	23	c.855 others(42): Show c.855+24305_855+24306insCTTTCTTTCTTTCTTTCTTTCTT	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233661680	T T	TTTCTTTC others(16): Show TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02809.hp2 NA19060.hp2 HG02809.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0143 a0001c0001t0002g0275 a0001c0001t0001g0143 a0001c0001t0002g0275	2	290	0.0069	23	c.855 others(42): Show c.855+43120_855+43121insCTTTCTTTCTTTCTTTCTTTCTT	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067822	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	410	0.0024	23	c.-10 others(34): Show c.-1034_-1033insTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		941		chr5	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(16): Show GAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	410	0.0024	23	c.-10 others(34): Show c.-1077_-1076insTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
ULK1_chr12_131889622_131928150	131918881	T T	TGTGTGGG others(16): Show TGTGTGGGGTGTCGGGTGTGTGGG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0015 a0011c0015	a0011c0015t0001 a0011c0015t0001	a0011c0015t0001g0221 a0011c0015t0001g0221	1	344	0.0029	23	c.251 others(40): Show c.2511+211_2511+212insCGGGTGTGTGGGGTGTGGGGTGT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr12	TogoVar
ULK4_chr3_41241599_41967103	41305192	C C	CTCTCCCT others(16): Show CTCTCCCTCTCCCTCTCCCCACGG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp1 HG02257.hp1 others(5): Show HG01243.hp2 HG01891.hp1 HG02257.hp1 HG02615.hp1 HG02622.hp2 HG02818.hp2 HG03486.hp1 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0015	a0001c0001 a0002c0016 a0003c0002 others(1): Show a0001c0001 a0002c0016 a0003c0002 a0015c0015	a0001c0001t0001 a0002c0016t0001 a0003c0002t0001 others(3): Show a0001c0001t0001 a0002c0016t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0005 a0015c0015t0001	a0001c0001t0001g0032 a0002c0016t0001g0057 a0003c0002t0001g0006 others(5): Show a0001c0001t0001g0032 a0002c0016t0001g0057 a0003c0002t0001g0006 a0003c0002t0002g0007 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0005g0068 a0015c0015t0001g0005	8	72	0.1111	23	c.367 others(44): Show c.3679-55641_3679-55619dupCCGTGGGGAGAGGGAGAGGGAGA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	35/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41431547	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00735.hp1 HG01071.hp2 others(2): Show HG00621.hp1 HG00735.hp1 HG01071.hp2 HG01433.hp2 HG01515.hp2	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0020	a0001c0001 a0006c0005 a0007c0007 others(1): Show a0001c0001 a0006c0005 a0007c0007 a0020c0023	a0001c0001t0001 a0006c0005t0001 a0007c0007t0001 others(1): Show a0001c0001t0001 a0006c0005t0001 a0007c0007t0001 a0020c0023t0001	a0001c0001t0001g0039 a0001c0001t0001g0041 a0006c0005t0001g0063 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0041 a0006c0005t0001g0063 a0007c0007t0001g0034 a0020c0023t0001g0024	5	72	0.0694	23	c.349 others(44): Show c.3492+23949_3492+23950insAAAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	34/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506766	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	72	0.0139	23	c.322 others(44): Show c.3227-43514_3227-43513insATATATATATATATTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG04184.hp2 HG02896.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0001 a0001c0001t0003 a0002c0003t0001	a0001c0001t0003g0072 a0002c0003t0001g0061 a0001c0001t0003g0072 a0002c0003t0001g0061	2	72	0.0278	23	c.322 others(44): Show c.3227-43515_3227-43514insATATTTTTTTTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41901479	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01106.hp1 HG01106.hp2 others(4): Show HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01891.hp2 HG02258.hp1 HG02451.hp2 HG03486.hp1	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0002c0003 a0002c0016 others(1): Show a0001c0001 a0002c0003 a0002c0016 a0021c0024	a0001c0001t0001 a0002c0003t0001 a0002c0016t0001 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0016t0001 a0021c0024t0001	a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0055 others(4): Show a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0055 a0002c0003t0001g0059 a0002c0003t0001g0062 a0002c0016t0001g0057 a0021c0024t0001g0027	7	72	0.0972	23	c.118 others(40): Show c.1183-651_1183-650insAAAAAAAAAAAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	12/36			chr3	TogoVar

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